LOCUS       NM_006088               1563 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens tubulin beta 4B class IVb (TUBB4B), mRNA.
ACCESSION   NM_006088
VERSION     NM_006088.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1563)
  AUTHORS   Hu,H., Zhang,Y., Zhai,H., Dong,J., Zuo,L., Guo,X. and Wang,C.
  TITLE     P300 reduces TUBB4B expression to facilitate the biological process
            of migration and invasion of non-small cell lung cancer cells
  JOURNAL   Tissue Cell 88, 102386 (2024)
   PUBMED   38636368
  REMARK    GeneRIF: P300 reduces TUBB4B expression to facilitate the
            biological process of migration and invasion of non-small cell lung
            cancer cells.
REFERENCE   2  (bases 1 to 1563)
  AUTHORS   Dodd,D.O., Mechaussier,S., Yeyati,P.L., McPhie,F., Anderson,J.R.,
            Khoo,C.J., Shoemark,A., Gupta,D.K., Attard,T., Zariwala,M.A.,
            Legendre,M., Bracht,D., Wallmeier,J., Gui,M., Fassad,M.R.,
            Parry,D.A., Tennant,P.A., Meynert,A., Wheway,G., Fares-Taie,L.,
            Black,H.A., Mitri-Frangieh,R., Faucon,C., Kaplan,J., Patel,M.,
            McKie,L., Megaw,R., Gatsogiannis,C., Mohamed,M.A., Aitken,S.,
            Gautier,P., Reinholt,F.R., Hirst,R.A., O'Callaghan,C., Heimdal,K.,
            Bottier,M., Escudier,E., Crowley,S., Descartes,M., Jabs,E.W.,
            Kenia,P., Amiel,J., Bacci,G.M., Calogero,C., Palazzo,V., Tiberi,L.,
            Blumlein,U., Rogers,A., Wambach,J.A., Wegner,D.J., Fulton,A.B.,
            Kenna,M., Rosenfeld,M., Holm,I.A., Quigley,A., Hall,E.A.,
            Murphy,L.C., Cassidy,D.M., von Kriegsheim,A., Papon,J.F.,
            Pasquier,L., Murris,M.S., Chalmers,J.D., Hogg,C., Macleod,K.A.,
            Urquhart,D.S., Unger,S., Aitman,T.J., Amselem,S., Leigh,M.W.,
            Knowles,M.R., Omran,H., Mitchison,H.M., Brown,A., Marsh,J.A.,
            Welburn,J.P.I., Ti,S.C., Horani,A., Rozet,J.M., Perrault,I. and
            Mill,P.
  CONSRTM   Scottish Genomes Partnership16; Genomics England Research
            Consortium45; Undiagnosed Diseases Network46
  TITLE     Ciliopathy patient variants reveal organelle-specific functions for
            TUBB4B in axonemal microtubules
  JOURNAL   Science 384 (6694), eadf5489 (2024)
   PUBMED   38662826
  REMARK    GeneRIF: Ciliopathy patient variants reveal organelle-specific
            functions for TUBB4B in axonemal microtubules.
            Erratum:[Science. 2024 May 10;384(6696):eadq2178. doi:
            10.1126/science.adq2178.. PMID: 38723101]
REFERENCE   3  (bases 1 to 1563)
  AUTHORS   Gui,M., Croft,J.T., Zabeo,D., Acharya,V., Kollman,J.M.,
            Burgoyne,T., Hoog,J.L. and Brown,A.
  TITLE     SPACA9 is a lumenal protein of human ciliary singlet and doublet
            microtubules
  JOURNAL   Proc Natl Acad Sci U S A 119 (41), e2207605119 (2022)
   PUBMED   36191189
REFERENCE   4  (bases 1 to 1563)
  AUTHORS   Maasz,A., Hadzsiev,K., Ripszam,R., Zsigmond,A., Maka,E., Knezy,K.,
            Lesch,B., Nemeth,A., Bene,J., Galik,B., Gyenesei,A. and Melegh,B.
  TITLE     TUBB4B gene mutation in Leber phenotype of congenital amaurosis
            syndrome associated with early-onset deafness
  JOURNAL   Eur J Med Genet 65 (4), 104471 (2022)
   PUBMED   35240325
  REMARK    GeneRIF: TUBB4B gene mutation in Leber phenotype of congenital
            amaurosis syndrome associated with early-onset deafness.
REFERENCE   5  (bases 1 to 1563)
  AUTHORS   Sobierajska,K., Ciszewski,W.M., Wawro,M.E., Wieczorek-Szukala,K.,
            Boncela,J., Papiewska-Pajak,I., Niewiarowska,J. and Kowalska,M.A.
  TITLE     TUBB4B Downregulation Is Critical for Increasing Migration of
            Metastatic Colon Cancer Cells
  JOURNAL   Cells 8 (8), 810 (2019)
   PUBMED   31375012
  REMARK    GeneRIF: The authors uncovered that decomposition of microtubules
            associated with the decrease of TUBB4B protein observed during
            epithelial-mesenchymal transition of colon cancer cells is critical
            for the regulation of cell polarization and control of vimentin
            localization and function.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1563)
  AUTHORS   Kleiderlein,J.J., Nisson,P.E., Jessee,J., Li,W.B., Becker,K.G.,
            Derby,M.L., Ross,C.A. and Margolis,R.L.
  TITLE     CCG repeats in cDNAs from human brain
  JOURNAL   Hum Genet 103 (6), 666-673 (1998)
   PUBMED   9921901
  REMARK    Erratum:[Hum Genet 1999 Jan;104(1):113]
REFERENCE   7  (bases 1 to 1563)
  AUTHORS   Golsteyn,R.M., Mundt,K.E., Fry,A.M. and Nigg,E.A.
  TITLE     Cell cycle regulation of the activity and subcellular localization
            of Plk1, a human protein kinase implicated in mitotic spindle
            function
  JOURNAL   J Cell Biol 129 (6), 1617-1628 (1995)
   PUBMED   7790358
REFERENCE   8  (bases 1 to 1563)
  AUTHORS   Burgoyne,R.D., Cambray-Deakin,M.A., Lewis,S.A., Sarkar,S. and
            Cowan,N.J.
  TITLE     Differential distribution of beta-tubulin isotypes in cerebellum
  JOURNAL   EMBO J 7 (8), 2311-2319 (1988)
   PUBMED   2461292
REFERENCE   9  (bases 1 to 1563)
  AUTHORS   Wang,D., Villasante,A., Lewis,S.A. and Cowan,N.J.
  TITLE     The mammalian beta-tubulin repertoire: hematopoietic expression of
            a novel, heterologous beta-tubulin isotype
  JOURNAL   J Cell Biol 103 (5), 1903-1910 (1986)
   PUBMED   3782288
REFERENCE   10 (bases 1 to 1563)
  AUTHORS   Lewis,S.A., Gilmartin,M.E., Hall,J.L. and Cowan,N.J.
  TITLE     Three expressed sequences within the human beta-tubulin multigene
            family each define a distinct isotype
  JOURNAL   J Mol Biol 182 (1), 11-20 (1985)
   PUBMED   3999141
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            CB139156.1 and BC004188.2.
            
            On Nov 22, 2018 this sequence version replaced NM_006088.5.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC029529.1, AK000560.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000340384.5/ ENSP00000341289.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                CB139156.1         29-53
            26-1563             BC004188.2         1-1538
FEATURES             Location/Qualifiers
     source          1..1563
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..1563
                     /gene="TUBB4B"
                     /gene_synonym="Beta2; LCAEOD; TUBB2; TUBB2C"
                     /note="tubulin beta 4B class IVb"
                     /db_xref="GeneID:10383"
                     /db_xref="HGNC:HGNC:20771"
                     /db_xref="MIM:602660"
     exon            1..131
                     /gene="TUBB4B"
                     /gene_synonym="Beta2; LCAEOD; TUBB2; TUBB2C"
                     /inference="alignment:Splign:2.1.0"
     CDS             75..1412
                     /gene="TUBB4B"
                     /gene_synonym="Beta2; LCAEOD; TUBB2; TUBB2C"
                     /note="tubulin, beta, 2; tubulin beta-2C chain; class IVb
                     beta tubulin; tubulin beta-2 chain; tubulin, beta 2C;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="tubulin beta-4B chain"
                     /protein_id="NP_006079.1"
                     /db_xref="CCDS:CCDS7039.1"
                     /db_xref="GeneID:10383"
                     /db_xref="HGNC:HGNC:20771"
                     /db_xref="MIM:602660"
                     /translation="MREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQL
                     ERINVYYNEATGGKYVPRAVLVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWA
                     KGHYTEGAELVDSVLDVVRKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEYP
                     DRIMNTFSVVPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLT
                     TPTYGDLNHLVSATMSGVTTCLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSR
                     GSQQYRALTVPELTQQMFDAKNMMAACDPRHGRYLTVAAVFRGRMSMKEVDEQMLNVQ
                     NKNSSYFVEWIPNNVKTAVCDIPPRGLKMSATFIGNSTAIQELFKRISEQFTAMFRRK
                     AFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEGEFEEEAEEEVA"
     exon            132..240
                     /gene="TUBB4B"
                     /gene_synonym="Beta2; LCAEOD; TUBB2; TUBB2C"
                     /inference="alignment:Splign:2.1.0"
     exon            241..351
                     /gene="TUBB4B"
                     /gene_synonym="Beta2; LCAEOD; TUBB2; TUBB2C"
                     /inference="alignment:Splign:2.1.0"
     exon            352..1563
                     /gene="TUBB4B"
                     /gene_synonym="Beta2; LCAEOD; TUBB2; TUBB2C"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1544..1549
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBB4B"
                     /gene_synonym="Beta2; LCAEOD; TUBB2; TUBB2C"
                     /note="hexamer: ATTAAA"
     polyA_site      1563
                     /gene="TUBB4B"
                     /gene_synonym="Beta2; LCAEOD; TUBB2; TUBB2C"
                     /note="major polyA site"
ORIGIN      
        1 agcactctgc gcgcccgctc ttctgctgct gtttgtctac ttcctcctgc ttccccgccg
       61 ccgccgccgc catcatgagg gaaatcgtgc acttgcaggc cgggcagtgc ggcaaccaaa
      121 tcggcgccaa gttttgggag gtgatcagcg atgagcacgg catcgacccc acgggcacct
      181 accacgggga cagcgacctg cagctggaac gcatcaacgt gtactacaat gaggccaccg
      241 gcggcaagta cgtgccccgc gccgtgctcg tggatctgga gcccggcacc atggactccg
      301 tgcgctcggg gcccttcggg cagatcttcc ggccggacaa cttcgttttc ggtcagagtg
      361 gtgctgggaa caactgggcc aaggggcact acacagaagg cgcggagctg gtggactcgg
      421 tgctggatgt tgtgagaaag gaggctgaga gctgtgactg cctgcagggt ttccagctga
      481 cccactccct gggtgggggg actgggtctg ggatgggtac cctcctcatc agcaagatcc
      541 gggaggagta cccagacagg atcatgaaca cgtttagtgt ggtgccttcg cccaaagtgt
      601 cagacacagt ggtggagccc tacaacgcca ccctctcagt ccaccagctc gtagaaaaca
      661 cagacgagac ctactgcatt gataacgaag ctctctacga catttgcttc agaaccctaa
      721 agctgaccac gcccacctat ggtgacctga accacctggt gtctgctacc atgagtgggg
      781 tcaccacctg cctgcgcttc ccaggccagc tcaatgctga cctgcggaag ctggctgtga
      841 acatggtccc gtttccccgg ctgcacttct tcatgcccgg ctttgcccca ctgaccagcc
      901 ggggcagcca gcagtaccgg gcgctgaccg tgcccgagct cacccagcag atgtttgatg
      961 ccaagaacat gatggctgcc tgcgaccccc gccatggccg ctacctgacg gttgccgccg
     1021 tgttcagggg ccgcatgtcc atgaaggagg tggatgagca aatgcttaat gtccaaaaca
     1081 aaaacagcag ctattttgtt gagtggatcc ccaacaatgt gaaaacggct gtctgtgaca
     1141 tcccacctcg ggggctaaaa atgtccgcca ccttcattgg caacagcacg gccatccagg
     1201 agctgttcaa gcgcatctcc gagcagttca cggccatgtt ccggcgcaag gccttcctgc
     1261 actggtacac gggcgagggc atggacgaga tggagttcac cgaggccgag agcaacatga
     1321 atgacctggt gtccgagtac cagcagtacc aggatgccac agccgaggag gagggcgagt
     1381 tcgaggagga ggctgaggag gaggtggcct agagccttca gtcactgggg aaagcaggga
     1441 agcagtgtga actctttatt cactcccagc ctgtcctgtg gcctgtccca ctgtgtgcac
     1501 ttgctgtttt ccctgtccac atccatgctg tacagacacc accattaaag cattttcata
     1561 gtg
//
